PEDIA: prioritization of exome data by image analysis
2019 · Genetics in Medicine · 86 citations
https://doi.org/10.1038/s41436-019-0566-2
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Magdalena Danyel
Berlin Institute of Health at Charité - Universitätsmedizin Berlin(DE)
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Magdalena Danyel is an academic researcher from Berlin Institute of Health at Charité - Universitätsmedizin Berlin. The author has contributed to research in topics: Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities & AI in cancer detection. The author has an h-index of 11, co-authored 29 publications.
ORCID: 0000-0001-6631-3198Papers by this author
worksNext-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
2024 · Nature Genetics · 36 citations
https://doi.org/10.1038/s41588-024-01836-1
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders
2024 · Genetics in Medicine · 0 citations
https://doi.org/10.1016/j.gim.2024.101326
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